Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Keratoconus | susceptibility | |
| Ehlers-Danlos Syndrome |
untyped
Pathogenic Variants
|
animal model: Mouse
scoped to subtype: Classical EDS
|
| Ehlers-Danlos Syndrome, COL5A1-related |
untyped
Pathogenic Variants
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Ehlers-Danlos syndrome, classic type MONDO:0007522 | AD | Definitive 2021-03-24 |
Ehlers-Danlos Syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.